Genopathy
Gene-Disorder Association · Article
Gene
TANGO2
Transport And Golgi Organization 2 Homolog
Disorder
Episodic Ataxia
First reported 1971
Supporting publications 1
Key publication · disorder [Syndromes of permanent contracture (stiff-man syndrome of Moersch and Woltman; Isaacs' syndrome of continual activity of the muscle fibers, other permanent contractures). Attempted classification and pathogenic interpretation. Discussion of the role of the interneurons and of the terminal expansion of the motoneuron].Revue neurologique · 1971
Association Review

In brief

The association between TANGO2 (Transport And Golgi Organization 2 Homolog) and Episodic Ataxia is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 25
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
TANGO2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Episodic Ataxia

The disorder

11 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

13 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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08
Provenance

References & sources

7 references

Every source and publication cited across this dossier, as one numbered reference list.

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